Chromosomal Elements:- Genes Are Segments of DNA That Code for Polypeptide Chains and RNAs
Our understanding of genes has evolved tremendously over the last century. Classically, a gene was defined as a portion of a chromosome that determines or affects a single character or phenotype (visible property), such as eye color. George Beadle and Edward Tatum proposed a molecular definition of a gene in 1940. After exposing spores of the fungus Neurospora crassa to x rays and other agents known to damage DNA and cause alterations in DNA sequence (mutations), they detected mutant fungal strains that lacked one or another specific en zyme, sometimes resulting in the failure of an entire metabolic pathway. Beadle and Tatum concluded that a gene is a segment of genetic material that determines or codes for one enzyme: the one gene–one enzyme hypothesis. Later this concept was broadened to one gene–one polypeptide, because many genes code for proteins that are not enzymes or for one polypeptide of a multisubunit protein. The modern biochemical definition of a gene is even more precise. A gene is all the DNA that encodes the primary sequence of some final gene product, which can be either a polypeptide or an RNA with a structural or catalytic function. DNA also contains other segments or sequences that have a purely regulatory function. Regulatory sequences provide signals that may denote the beginning or the end of genes, or influence the transcription of genes, or function as initiation points for replication or recombination. Some genes can be expressed in different ways to generate multiple gene products from one segment of DNA. The special transcriptional and translational mechanisms that allow this are described in Chapters 26 through 28. We can make direct estimations of the minimum overall size of genes that encode proteins. As described in detail in Chapter 27, each amino acid of a polypep tide chain is coded for by a sequence of three consecutive nucleotides in a single strand of DNA (Fig. 1), with these “codons” arranged in a sequence that corresponds to the sequence of amino acids in the polypep tide that the gene encodes. A polypeptide chain of 350 amino acid residues (an average-size chain) corresponds to 1,050 bp. Many genes in eukaryotes and a few in prokaryotes are interrupted by noncoding DNA segments and are therefore considerably longer than this simple calculation would suggest. How many genes are in a single chromosome? The Escherichia coli chromosome, one of the prokaryotic genomes that has been completely sequenced, is a circular DNA molecule (in the sense of an endless loop rather than a perfect circle) with 4,639,221 bp. These base pairs encode about 4,300 genes for proteins and another 115 genes for stable RNA molecules. Among eukaryotes, the approximately 3.2 billion base pairs of the human genome include 30,000 to 35,000 genes on 24 different chromosomes.
FIGURE 1 Colinearity of the coding nucleotide sequences of DNA and mRNA and the amino acid sequence of a polypeptide chain. The triplets of nucleotide units in DNA determine the amino acids in a protein through the intermediary mRNA. One of the DNA strands serves as a template for synthesis of mRNA, which has nucleotide triplets (codons) complementary to those of the DNA. In some bacterial and many eukaryotic genes, coding sequences are interrupted at intervals by regions of noncoding sequences (called introns).
